No paralogue variants have been mapped to residue 1553 for RYR1.
RYR1 | TGLMTFTANGKESNTFFQVEPNTKLFPAVF>V<LPTHQNVIQFELGKQKNIMPLSAAMFQSER | 1583 |
RYR2 | SGLLTFIANGKELSTYYQVEPSTKLFPAVF>A<QATSPNVFQFELGRIKNVMPLSAGLFKSEH | 1575 |
RYR3 | MGMLSFSANGKELGTCYQVEPNTKVFPAVF>L<QPTSTSLFQFELGKLKNAMPLSAAIFRSEE | 1479 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V1553I | c.4657G>A | Putative Benign | SIFT: Polyphen: |